nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression
|
Knight, Helen M. |
|
2009 |
85 |
6 |
p. 833-846 14 p. |
artikel |
2 |
A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
|
Mochida, Ganeshwaran H. |
|
2009 |
85 |
6 |
p. 897-902 6 p. |
artikel |
3 |
Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
|
Philippe, Orianne |
|
2009 |
85 |
6 |
p. 903-908 6 p. |
artikel |
4 |
Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
|
Loges, Niki Tomas |
|
2009 |
85 |
6 |
p. 883-889 7 p. |
artikel |
5 |
Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination
|
Vandewalle, Joke |
|
2009 |
85 |
6 |
p. 809-822 14 p. |
artikel |
6 |
Genetic Landscape of Eurasia and “Admixture” in Uyghurs
|
Li, Hui |
|
2009 |
85 |
6 |
p. 934-937 4 p. |
artikel |
7 |
Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation
|
Chen, Jieming |
|
2009 |
85 |
6 |
p. 775-785 11 p. |
artikel |
8 |
Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies
|
Xu, Shuhua |
|
2009 |
85 |
6 |
p. 762-774 13 p. |
artikel |
9 |
Haplotype Background, Repeat Length Evolution, and Huntington's Disease
|
Falush, Daniel |
|
2009 |
85 |
6 |
p. 939-942 4 p. |
artikel |
10 |
Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
|
Hellemans, Jan |
|
2009 |
85 |
6 |
p. 916-922 7 p. |
artikel |
11 |
Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
|
Mir, Asif |
|
2009 |
85 |
6 |
p. 909-915 7 p. |
artikel |
12 |
Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome
|
Dündar, Munis |
|
2009 |
85 |
6 |
p. 873-882 10 p. |
artikel |
13 |
Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
|
Duquesnoy, Philippe |
|
2009 |
85 |
6 |
p. 890-896 7 p. |
artikel |
14 |
Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects
|
Lin, Dan-Yu |
|
2009 |
85 |
6 |
p. 862-872 11 p. |
artikel |
15 |
mtDNA Data Mining in GenBank Needs Surveying
|
Yao, Yong-Gang |
|
2009 |
85 |
6 |
p. 929-933 5 p. |
artikel |
16 |
Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection
|
Rozen, Steve |
|
2009 |
85 |
6 |
p. 923-928 6 p. |
artikel |
17 |
Response to Falush: A Role for cis-Element Polymorphisms in HD
|
Warby, Simon C. |
|
2009 |
85 |
6 |
p. 942-945 4 p. |
artikel |
18 |
Response to Li et al.
|
Xu, Shuhua |
|
2009 |
85 |
6 |
p. 937-939 3 p. |
artikel |
19 |
Response to Yao et al.
|
Pereira, Luísa |
|
2009 |
85 |
6 |
p. 933- 1 p. |
artikel |
20 |
Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging
|
Armanios, Mary |
|
2009 |
85 |
6 |
p. 823-832 10 p. |
artikel |
21 |
Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies
|
Browning, Brian L. |
|
2009 |
85 |
6 |
p. 847-861 15 p. |
artikel |
22 |
The Biological Coherence of Human Phenome Databases
|
Oti, Martin |
|
2009 |
85 |
6 |
p. 801-808 8 p. |
artikel |
23 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2009 |
85 |
6 |
p. 759-761 3 p. |
artikel |
24 |
This Month in The Journal
|
Bungartz, Kathryn D. |
|
2009 |
85 |
6 |
p. 757-758 2 p. |
artikel |
25 |
Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty
|
Yang, Quanhe |
|
2009 |
85 |
6 |
p. 786-800 15 p. |
artikel |